Vincent T. Ramaekers

Liege, WAL 4000, Belgium

Last Updated: 09/26/2026

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Found 24 publications

KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.

KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.

Journal: Biology

Published: November 24, 2022

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.

Journal: Nutrients

Published: June 20, 2022

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.

Journal: eLife

Published: June 13, 2022

Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention.

Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention.

Journal: Journal of personalized medicine

Published: June 27, 2021

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.

Journal: Journal of medical genetics

Published: March 10, 2020

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism.

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism.

Journal: Autism research and treatment

Published: January 11, 2020

Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements: A Self-Controlled Trial.

Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements: A Self-Controlled Trial.

Journal: Autism research and treatment

Published: February 13, 2019

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Journal: JIMD reports

Published: December 22, 2018

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 02, 2018

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Journal: Molecular genetics and metabolism

Published: January 25, 2018

The basis for folinic acid treatment in neuro-psychiatric disorders.

The basis for folinic acid treatment in neuro-psychiatric disorders.

Journal: Biochimie

Published: January 03, 2016

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Journal: American journal of human genetics

Published: July 08, 2015

Showing 1-12 of 24

Last Updated: 09/26/2026